Seroatlas · Human Serome Atlas

LCA5

Lebercilin

Also known as: C6orf152, LCA5_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q86VQ0
Gene
LCA5
Ensembl
ENSG00000135338
Chromosome
6
Canonical length
697 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli,Primary cilium,Mitochondria,Basal body,Flagellar centriole,Mid piece

OverviewNCBI Gene

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

697 residues, UniProt reviewed canonical sequence.

>Q86VQ0|LCA5
     1  MGERAGSPGT DQERKAGKHH YSYLSDFETP QSSGRSSLVS SSPASVRRKN PKRQTSDGQV
    61  HHQAPRKPSP KGLPNRKGVR VGFRSQSLNR EPLRKDTDLV TKRILSARLL KINELQNEVS
   121  ELQVKLAELL KENKSLKRLQ YRQEKALNKF EDAENEISQL IFRHNNEITA LKERLRKSQE
   181  KERATEKRVK DTESELFRTK FSLQKLKEIS EARHLPERDD LAKKLVSAEL KLDDTERRIK
   241  ELSKNLELST NSFQRQLLAE RKRAYEAHDE NKVLQKEVQR LYHKLKEKER ELDIKNIYSN
   301  RLPKSSPNKE KELALRKNAA CQSDFADLCT KGVQTMEDFK PEEYPLTPET IMCYENKWEE
   361  PGHLTLDLQS QKQDRHGEAG ILNPIMEREE KFVTDEELHV VKQEVEKLED EWEREELDKK
   421  QKEKASLLER EEKPEWETGR YQLGMYPIQN MDKLQGEEEE RLKREMLLAK LNEIDRELQD
   481  SRNLKYPVLP LLPDFESKLH SPERSPKTYR FSESSERLFN GHHLQDISFS TPKGEGQNSG
   541  NVRSPASPNE FAFGSYVPSF AKTSERSNPF SQKSSFLDFQ RNSMEKLSKD GVDLITRKEK
   601  KANLMEQLFG ASGSSTISSK SSDPNSVASS KGDIDPLNFL PGNKGSRDQE HDEDEGFFLS
   661  EGRSFNPNRH RLKHADDKPA VKAADSVEDE IEEVALR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LCA5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.61
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 16 nTPM
  • choroid plexus: 14 nTPM
  • retina: 13 nTPM
  • fallopian tube: 9 nTPM
  • testis: 6.5 nTPM
  • ovary: 6.1 nTPM

Single-cell type

  • choroid plexus epithelial cells: 252 nCPM
  • ependymal cells: 249 nCPM
  • fallopian tube ciliated cells: 236 nCPM
  • respiratory ciliated cells: 212 nCPM
  • endometrial ciliated cells: 114 nCPM
  • epididymal efferent duct ciliated cells: 97 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 40 nTPM
  • hippocampal formation: 17 nTPM
  • midbrain: 17 nTPM
  • white matter: 16 nTPM
  • spinal cord: 16 nTPM
  • medulla oblongata: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LCA5.

Disease | AllUniProt

Conditions LCA5 is implicated in, by any mechanism.

Disease | GeneticClinVar

167 pathogenic / likely-pathogenic of 918 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.65
gnomAD pLI
0
gnomAD missense Z
-0.62
DepMap mean gene effect
0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LCA5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LCA5 as an antibody target. Whether an autoantibody or antibody against LCA5 could matter depends on whether native LCA5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LCA5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LCA5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LCA5. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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